Paola Imbrici Selected Research

Myotonia Congenita (Thomsen Disease)

1/2018	The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.
10/2016	Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.
9/2015	Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita.
10/2013	Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes.
9/2013	A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.

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Paola Imbrici Research Topics

Disease

5	Channelopathies 01/2021 - 01/2016
5	Myotonia Congenita (Thomsen Disease) 01/2018 - 09/2013
4	Myotonia 01/2020 - 09/2013
3	Epilepsy (Aura) 09/2021 - 01/2020
3	Ataxia (Dyssynergia) 09/2021 - 12/2004
3	Bartter Syndrome (Syndrome, Bartter) 01/2020 - 01/2017
3	Inborn Genetic Diseases (Disease, Hereditary) 01/2018 - 09/2013
2	Neurodevelopmental Disorders 09/2020 - 01/2020
2	Hypokalemia 01/2020 - 05/2018
2	Potassium aggravated myotonia 01/2019 - 05/2016
2	Hypertension (High Blood Pressure) 01/2017 - 05/2016
1	Infertility (Sterility) 06/2021
1	Brain Diseases (Brain Disorder) 04/2020
1	Cardiotoxicity 01/2020
1	Alkalosis 01/2020
1	Parkinson Disease (Parkinson's Disease) 01/2020
1	Migraine with Aura (Familial Hemiplegic Migraine) 01/2020
1	Myotonic Disorders (Paramyotonia Congenita) 01/2019
1	Polydipsia 05/2018
1	Kidney Diseases (Kidney Disease) 05/2018
1	Polyuria 05/2018
1	Rare Diseases (Rare Disease) 01/2017
1	type 3 Bartter syndrome 01/2017
1	Frailty 01/2016
1	Muscular Atrophy (Muscle Atrophy) 01/2016
1	Schizophrenia (Dementia Praecox) 01/2013
1	Autism Spectrum Disorder 01/2013
1	Mental Disorders (Mental Disorder) 01/2013
1	Bipolar Disorder (Manic Depressive Psychosis) 01/2013
1	Type 2 Episodic Ataxia 10/2008
1	Type 1 Episodic Ataxia 12/2006
1	Absence Epilepsy (Childhood Absence Epilepsy) 12/2004
1	Generalized Epilepsy 12/2004
1	Episodic Ataxia 12/2004

Drug/Important Bio-Agent (IBA)

7	Chloride Channels (Chloride Channel)IBA 01/2020 - 09/2013
6	Ion Channels (Ion Channel)IBA 06/2021 - 01/2013
6	Pharmaceutical PreparationsIBA 01/2020 - 01/2016
3	Proteins (Proteins, Gene)FDA Link 01/2021 - 01/2016
3	ChloridesIBA 01/2020 - 09/2015
3	Potassium Channels (Potassium Channel)IBA 01/2020 - 12/2006
3	Sodium Channel BlockersIBA 01/2020 - 01/2016
3	SodiumIBA 01/2020 - 01/2013
3	SaltsIBA 05/2018 - 05/2016
3	CLC-1 channelIBA 01/2018 - 09/2015
2	Mexiletine (Mexitil)FDA LinkGeneric 01/2020 - 01/2019
2	Anticonvulsants (Antiepileptic Drugs)IBA 01/2020 - 12/2004
2	PotassiumIBA 01/2020 - 01/2016
2	Voltage-Gated Sodium ChannelsIBA 01/2020 - 01/2019
2	CalciumIBA 01/2016 - 01/2013
2	voltage-dependent calcium channel (P-Q type)IBA 10/2008 - 12/2004
1	Valproic Acid (Depakote)FDA LinkGeneric 09/2021
1	4-Aminopyridine (4 Aminopyridine)FDA Link 09/2021
1	safinamideIBA 01/2020
1	Levodopa (L Dopa)FDA LinkGeneric 01/2020
1	AldosteroneIBA 01/2020
1	ReninIBA 01/2020
1	Sodium Channels (Sodium Channel)IBA 01/2020
1	Ligand-Gated Ion ChannelsIBA 01/2020
1	Calcium Chloride (Calcium Chloride, Anhydrous)FDA LinkGeneric 01/2020
1	Peptides (Polypeptides)IBA 01/2018
1	Amino Acids FDA Link 01/2018
1	Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA 01/2017
1	KATP ChannelsIBA 01/2016
1	AntibodiesIBA 01/2013
1	Nonsense Codon (Nonsense Mutation)IBA 10/2008
1	Kv1.2 Potassium ChannelIBA 12/2006
1	Calcium Channels (Calcium Channel)IBA 12/2004
1	Genetic Markers (Genetic Marker)IBA 12/2004

Therapy/Procedure

9	Therapeutics 04/2020 - 01/2013
1	Precision Medicine 01/2020
1	Drug Therapy (Chemotherapy) 01/2016